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Published online: 2021-06-16
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Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome

Ana Cecilia Cepeda-Nieto, Carlos Ramiro Zamora-Alemán, Mauricio Cortes-Aguirre, Roberto Valdés-Charles, Cesar Rojas-Sánchez, Mauricio Andrés Salinas-Santander, Dan Hu, Hector Barajas-Martinez
DOI: 10.5603/CJ.a2021.0063
Pubmed: 34165182

open access

Ahead of print
Research letter
Published online: 2021-06-16


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Get Citation
About this article

Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome


Cardiology Journal


Ahead of print

Article type

Research Letter

Published online







Ana Cecilia Cepeda-Nieto
Carlos Ramiro Zamora-Alemán
Mauricio Cortes-Aguirre
Roberto Valdés-Charles
Cesar Rojas-Sánchez
Mauricio Andrés Salinas-Santander
Dan Hu
Hector Barajas-Martinez

References (11)
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  8. Piippo K, Swan H, Pasternack M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol. 2001; 37(2): 562–568.
  9. Eddy CA, MacCormick JM, Chung SK, et al. Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome. Heart Rhythm. 2008; 5(9): 1275–1281.
  10. Chen L, Marquardt ML, Tester DJ, et al. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci USA. 2007; 104(52): 20990–20995.
  11. Nof E, Barajas-Martinez H, Eldar M, et al. LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. Europace. 2011; 13(10): 1478–1483.

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